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The Impact of COVID-19 and Pandemic Mitigation Measures on Persons With Sensory Impairment.

American journal of ophthalmology

Bernard A, Weiss S, Rahman M, Ulin SS, D'Souza C, Salgat A, Panzer K, Stein JD, Meade MA, McKee MM, Ehrlich JR.
PMID: 34197781
Am J Ophthalmol. 2021 Jun 29;234:49-58. doi: 10.1016/j.ajo.2021.06.019. Epub 2021 Jun 29.

PURPOSE: To assess the impact of the COVID-19 pandemic and associated mitigation measures on persons with sensory impairments (SI), including visual impairments (VI) and hearing impairments (HI).DESIGN: Cross-sectional survey.METHODS: Adults with VI (best-corrected visual acuity

Cite
Bernard A, Weiss S, Rahman M, et al. The Impact of COVID-19 and Pandemic Mitigation Measures on Persons With Sensory Impairment. Am J Ophthalmol. 2021;234:49-58doi: 10.1016/j.ajo.2021.06.019.
Bernard, A., Weiss, S., Rahman, M., Ulin, S. S., D'Souza, C., Salgat, A., Panzer, K., Stein, J. D., Meade, M. A., McKee, M. M., & Ehrlich, J. R. (2021). The Impact of COVID-19 and Pandemic Mitigation Measures on Persons With Sensory Impairment. American journal of ophthalmology, 23449-58. https://doi.org/10.1016/j.ajo.2021.06.019
Bernard, Alec, et al. "The Impact of COVID-19 and Pandemic Mitigation Measures on Persons With Sensory Impairment." American journal of ophthalmology vol. 234 (2021): 49-58. doi: https://doi.org/10.1016/j.ajo.2021.06.019
Bernard A, Weiss S, Rahman M, Ulin SS, D'Souza C, Salgat A, Panzer K, Stein JD, Meade MA, McKee MM, Ehrlich JR. The Impact of COVID-19 and Pandemic Mitigation Measures on Persons With Sensory Impairment. Am J Ophthalmol. 2021 Jun 29;234:49-58. doi: 10.1016/j.ajo.2021.06.019. Epub 2021 Jun 29. PMID: 34197781; PMCID: PMC8238639.
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Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy.

Brain : a journal of neurology

Ahring PK, Liao VWY, Gardella E, Johannesen KM, Krey I, Selmer KK, Stadheim BF, Davis H, Peinhardt C, Koko M, Coorg RK, Syrbe S, Bertsche A, Santiago-Sim T, Diemer T, Fenger CD, Platzer K, Eichler EE, Lerche H, Lemke JR, Chebib M, Møller RS.
PMID: 34633442
Brain. 2021 Oct 11; doi: 10.1093/brain/awab391. Epub 2021 Oct 11.

A potential link between GABRD encoding the δ subunit of extrasynaptic GABAA receptors and neurodevelopmental disorders has largely been disregarded due to conflicting conclusions from early studies. However, we identified seven heterozygous missense GABRD variants in 10 patients with...

Cite
Ahring PK, Liao VWY, Gardella E, et al. Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy. Brain. 2021;doi: 10.1093/brain/awab391.
Ahring, P. K., Liao, V. W. Y., Gardella, E., Johannesen, K. M., Krey, I., Selmer, K. K., Stadheim, B. F., Davis, H., Peinhardt, C., Koko, M., Coorg, R. K., Syrbe, S., Bertsche, A., Santiago-Sim, T., Diemer, T., Fenger, C. D., Platzer, K., Eichler, E. E., Lerche, H., Lemke, J. R., Chebib, M., & Møller, R. S. (2021). Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy. Brain : a journal of neurology, . https://doi.org/10.1093/brain/awab391
Ahring, Philip K, et al. "Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy." Brain : a journal of neurology vol. (2021). doi: https://doi.org/10.1093/brain/awab391
Ahring PK, Liao VWY, Gardella E, Johannesen KM, Krey I, Selmer KK, Stadheim BF, Davis H, Peinhardt C, Koko M, Coorg RK, Syrbe S, Bertsche A, Santiago-Sim T, Diemer T, Fenger CD, Platzer K, Eichler EE, Lerche H, Lemke JR, Chebib M, Møller RS. Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy. Brain. 2021 Oct 11; doi: 10.1093/brain/awab391. Epub 2021 Oct 11. PMID: 34633442.
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The Impact of COVID-19 and Pandemic Mitigation Measures on Persons With Sensory Impairment.

American journal of ophthalmology

Bernard A, Weiss S, Rahman M, Ulin SS, D'Souza C, Salgat A, Panzer K, Stein JD, Meade MA, McKee MM, Ehrlich JR.
PMID: 34197781
Am J Ophthalmol. 2021 Jun 29;234:49-58. doi: 10.1016/j.ajo.2021.06.019. Epub 2021 Jun 29.

PURPOSE: To assess the impact of the COVID-19 pandemic and associated mitigation measures on persons with sensory impairments (SI), including visual impairments (VI) and hearing impairments (HI).DESIGN: Cross-sectional survey.METHODS: Adults with VI (best-corrected visual acuity

Cite
Bernard A, Weiss S, Rahman M, et al. The Impact of COVID-19 and Pandemic Mitigation Measures on Persons With Sensory Impairment. Am J Ophthalmol. 2021;234:49-58doi: 10.1016/j.ajo.2021.06.019.
Bernard, A., Weiss, S., Rahman, M., Ulin, S. S., D'Souza, C., Salgat, A., Panzer, K., Stein, J. D., Meade, M. A., McKee, M. M., & Ehrlich, J. R. (2021). The Impact of COVID-19 and Pandemic Mitigation Measures on Persons With Sensory Impairment. American journal of ophthalmology, 23449-58. https://doi.org/10.1016/j.ajo.2021.06.019
Bernard, Alec, et al. "The Impact of COVID-19 and Pandemic Mitigation Measures on Persons With Sensory Impairment." American journal of ophthalmology vol. 234 (2021): 49-58. doi: https://doi.org/10.1016/j.ajo.2021.06.019
Bernard A, Weiss S, Rahman M, Ulin SS, D'Souza C, Salgat A, Panzer K, Stein JD, Meade MA, McKee MM, Ehrlich JR. The Impact of COVID-19 and Pandemic Mitigation Measures on Persons With Sensory Impairment. Am J Ophthalmol. 2021 Jun 29;234:49-58. doi: 10.1016/j.ajo.2021.06.019. Epub 2021 Jun 29. PMID: 34197781; PMCID: PMC8238639.
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The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.

Human mutation

Kumble S, Levy AM, Punetha J, Gao H, Ah Mew N, Anyane-Yeboa K, Benke PJ, Berger SM, Bjerglund L, Campos-Xavier B, Ciliberto M, Cohen JS, Comi AM, Curry C, Damaj L, Denommé-Pichon AS, Emrick L, Faivre L, Fasano MB, Fiévet A, Finkel RS, García-Miñaúr S, Gerard A, Gomez-Puertas P, Guillen Sacoto MJ, Hoffman TL, Howard L, Iglesias AD, Izumi K, Larson A, Leiber A, Lozano R, Marcos-Alcalde I, Mintz CS, Mullegama SV, Møller RS, Odent S, Oppermann H, Ostergaard E, Pacio-Míguez M, Palomares-Bralo M, Parikh S, Paulson AM, Platzer K, Posey JE, Potocki L, Revah-Politi A, Rio M, Ritter AL, Robinson S, Rosenfeld JA, Santos-Simarro F, Sousa SB, Wéber M, Xie Y, Chung WK, Brown NJ, Tümer Z.
PMID: 34859529
Hum Mutat. 2021 Dec 02; doi: 10.1002/humu.24308. Epub 2021 Dec 02.

De novo variants in QRICH1 (Glutamine-rich protein 1) has recently been reported in 11 individuals with intellectual disability (ID). The function of QRICH1 is largely unknown but it is likely to play a key role in the unfolded response...

Cite
Kumble S, Levy AM, Punetha J, et al. The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder. Hum Mutat. 2021;doi: 10.1002/humu.24308.
Kumble, S., Levy, A. M., Punetha, J., Gao, H., Ah Mew, N., Anyane-Yeboa, K., Benke, P. J., Berger, S. M., Bjerglund, L., Campos-Xavier, B., Ciliberto, M., Cohen, J. S., Comi, A. M., Curry, C., Damaj, L., Denommé-Pichon, A. S., Emrick, L., Faivre, L., Fasano, M. B., Fiévet, A., Finkel, R. S., García-Miñaúr, S., Gerard, A., Gomez-Puertas, P., Guillen Sacoto, M. J., Hoffman, T. L., Howard, L., Iglesias, A. D., Izumi, K., Larson, A., Leiber, A., Lozano, R., Marcos-Alcalde, I., Mintz, C. S., Mullegama, S. V., Møller, R. S., Odent, S., Oppermann, H., Ostergaard, E., Pacio-Míguez, M., Palomares-Bralo, M., Parikh, S., Paulson, A. M., Platzer, K., Posey, J. E., Potocki, L., Revah-Politi, A., Rio, M., Ritter, A. L., Robinson, S., Rosenfeld, J. A., Santos-Simarro, F., Sousa, S. B., Wéber, M., Xie, Y., Chung, W. K., Brown, N. J., & Tümer, Z. (2021). The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder. Human mutation, . https://doi.org/10.1002/humu.24308
Kumble, Smitha, et al. "The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder." Human mutation vol. (2021). doi: https://doi.org/10.1002/humu.24308
Kumble S, Levy AM, Punetha J, Gao H, Ah Mew N, Anyane-Yeboa K, Benke PJ, Berger SM, Bjerglund L, Campos-Xavier B, Ciliberto M, Cohen JS, Comi AM, Curry C, Damaj L, Denommé-Pichon AS, Emrick L, Faivre L, Fasano MB, Fiévet A, Finkel RS, García-Miñaúr S, Gerard A, Gomez-Puertas P, Guillen Sacoto MJ, Hoffman TL, Howard L, Iglesias AD, Izumi K, Larson A, Leiber A, Lozano R, Marcos-Alcalde I, Mintz CS, Mullegama SV, Møller RS, Odent S, Oppermann H, Ostergaard E, Pacio-Míguez M, Palomares-Bralo M, Parikh S, Paulson AM, Platzer K, Posey JE, Potocki L, Revah-Politi A, Rio M, Ritter AL, Robinson S, Rosenfeld JA, Santos-Simarro F, Sousa SB, Wéber M, Xie Y, Chung WK, Brown NJ, Tümer Z. The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder. Hum Mutat. 2021 Dec 02; doi: 10.1002/humu.24308. Epub 2021 Dec 02. PMID: 34859529.
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The Impact of COVID-19 and Pandemic Mitigation Measures on Persons With Sensory Impairment.

American journal of ophthalmology

Bernard A, Weiss S, Rahman M, Ulin SS, D'Souza C, Salgat A, Panzer K, Stein JD, Meade MA, McKee MM, Ehrlich JR.
PMID: 34197781
Am J Ophthalmol. 2021 Jun 29;234:49-58. doi: 10.1016/j.ajo.2021.06.019. Epub 2021 Jun 29.

PURPOSE: To assess the impact of the COVID-19 pandemic and associated mitigation measures on persons with sensory impairments (SI), including visual impairments (VI) and hearing impairments (HI).DESIGN: Cross-sectional survey.METHODS: Adults with VI (best-corrected visual acuity

Cite
Bernard A, Weiss S, Rahman M, et al. The Impact of COVID-19 and Pandemic Mitigation Measures on Persons With Sensory Impairment. Am J Ophthalmol. 2021;234:49-58doi: 10.1016/j.ajo.2021.06.019.
Bernard, A., Weiss, S., Rahman, M., Ulin, S. S., D'Souza, C., Salgat, A., Panzer, K., Stein, J. D., Meade, M. A., McKee, M. M., & Ehrlich, J. R. (2021). The Impact of COVID-19 and Pandemic Mitigation Measures on Persons With Sensory Impairment. American journal of ophthalmology, 23449-58. https://doi.org/10.1016/j.ajo.2021.06.019
Bernard, Alec, et al. "The Impact of COVID-19 and Pandemic Mitigation Measures on Persons With Sensory Impairment." American journal of ophthalmology vol. 234 (2021): 49-58. doi: https://doi.org/10.1016/j.ajo.2021.06.019
Bernard A, Weiss S, Rahman M, Ulin SS, D'Souza C, Salgat A, Panzer K, Stein JD, Meade MA, McKee MM, Ehrlich JR. The Impact of COVID-19 and Pandemic Mitigation Measures on Persons With Sensory Impairment. Am J Ophthalmol. 2021 Jun 29;234:49-58. doi: 10.1016/j.ajo.2021.06.019. Epub 2021 Jun 29. PMID: 34197781; PMCID: PMC8238639.
Copy Download .nbib Format: NLM
The Impact of COVID-19 and Pandemic Mitigation Measures on Persons With Sensory Impairment.

American journal of ophthalmology

Bernard A, Weiss S, Rahman M, Ulin SS, D'Souza C, Salgat A, Panzer K, Stein JD, Meade MA, McKee MM, Ehrlich JR.
PMID: 34197781
Am J Ophthalmol. 2021 Jun 29;234:49-58. doi: 10.1016/j.ajo.2021.06.019. Epub 2021 Jun 29.

PURPOSE: To assess the impact of the COVID-19 pandemic and associated mitigation measures on persons with sensory impairments (SI), including visual impairments (VI) and hearing impairments (HI).DESIGN: Cross-sectional survey.METHODS: Adults with VI (best-corrected visual acuity

Cite
Bernard A, Weiss S, Rahman M, et al. The Impact of COVID-19 and Pandemic Mitigation Measures on Persons With Sensory Impairment. Am J Ophthalmol. 2021;234:49-58doi: 10.1016/j.ajo.2021.06.019.
Bernard, A., Weiss, S., Rahman, M., Ulin, S. S., D'Souza, C., Salgat, A., Panzer, K., Stein, J. D., Meade, M. A., McKee, M. M., & Ehrlich, J. R. (2021). The Impact of COVID-19 and Pandemic Mitigation Measures on Persons With Sensory Impairment. American journal of ophthalmology, 23449-58. https://doi.org/10.1016/j.ajo.2021.06.019
Bernard, Alec, et al. "The Impact of COVID-19 and Pandemic Mitigation Measures on Persons With Sensory Impairment." American journal of ophthalmology vol. 234 (2021): 49-58. doi: https://doi.org/10.1016/j.ajo.2021.06.019
Bernard A, Weiss S, Rahman M, Ulin SS, D'Souza C, Salgat A, Panzer K, Stein JD, Meade MA, McKee MM, Ehrlich JR. The Impact of COVID-19 and Pandemic Mitigation Measures on Persons With Sensory Impairment. Am J Ophthalmol. 2021 Jun 29;234:49-58. doi: 10.1016/j.ajo.2021.06.019. Epub 2021 Jun 29. PMID: 34197781; PMCID: PMC8238639.
Copy Download .nbib Format: NLM
Showing 25 to 30 of 30 entries